Incidental Mutation 'IGL02989:Fancg'
ID 406869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancg
Ensembl Gene ENSMUSG00000028453
Gene Name Fanconi anemia, complementation group G
Synonyms Xrcc9
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # IGL02989
Quality Score
Status
Chromosome 4
Chromosomal Location 43002343-43010506 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 43007121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030165]
AlphaFold Q9EQR6
Predicted Effect probably benign
Transcript: ENSMUST00000030165
SMART Domains Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453

DomainStartEndE-ValueType
low complexity region 51 74 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
low complexity region 164 179 N/A INTRINSIC
low complexity region 190 199 N/A INTRINSIC
Pfam:TPR_1 251 280 4.1e-6 PFAM
Pfam:TPR_2 251 281 7.3e-5 PFAM
Pfam:TPR_8 251 281 4.5e-3 PFAM
low complexity region 302 317 N/A INTRINSIC
low complexity region 401 418 N/A INTRINSIC
Blast:TPR 458 491 4e-9 BLAST
Blast:TPR 518 550 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135362
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females and males homozygous for targeted null mutations exhibit hypogonadism and reduced fertility. Cytogeneic analysis showed somatic chromosome aberrations occur at a higher spontaneous rate and are easier to induce than in normal cells. Cells are also more sensitive to mitomycin C. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 T A 19: 20,617,422 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,670,748 (GRCm39) D44G probably damaging Het
Arhgap35 A T 7: 16,231,580 (GRCm39) *1500R probably null Het
Arid1b A G 17: 5,385,322 (GRCm39) Y1413C probably damaging Het
Atf6 A G 1: 170,616,252 (GRCm39) probably benign Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Cat A G 2: 103,303,318 (GRCm39) F153S probably damaging Het
Ccdc187 G A 2: 26,166,443 (GRCm39) R712W possibly damaging Het
Clpb T C 7: 101,428,427 (GRCm39) S396P probably damaging Het
Cntnap5a A G 1: 116,339,813 (GRCm39) probably benign Het
Dap3 G A 3: 88,837,878 (GRCm39) probably benign Het
Dnah6 T A 6: 73,046,403 (GRCm39) D3195V probably damaging Het
Eprs1 T G 1: 185,150,563 (GRCm39) F1355C probably benign Het
Faim2 A G 15: 99,418,243 (GRCm39) probably benign Het
Fbxo42 T A 4: 140,926,845 (GRCm39) I375N probably damaging Het
Gabrr3 A T 16: 59,268,371 (GRCm39) D328V probably damaging Het
Gm5849 T A 3: 90,685,107 (GRCm39) D26V probably damaging Het
Gm6563 T C 19: 23,653,234 (GRCm39) L8P possibly damaging Het
Gpld1 A G 13: 25,174,019 (GRCm39) N815D possibly damaging Het
Hrob A G 11: 102,146,125 (GRCm39) I134V probably benign Het
Idh2 T A 7: 79,748,856 (GRCm39) I142F probably damaging Het
Kcnh7 A C 2: 62,552,269 (GRCm39) N907K probably benign Het
Mcm3ap A G 10: 76,306,894 (GRCm39) T336A possibly damaging Het
Or4c15 A T 2: 88,760,048 (GRCm39) S204T possibly damaging Het
Or52i2 T C 7: 102,319,651 (GRCm39) S175P possibly damaging Het
Or5b3 C A 19: 13,388,850 (GRCm39) Q306K probably benign Het
Pilrb1 C A 5: 137,855,492 (GRCm39) R133L possibly damaging Het
Pitpnm3 C A 11: 72,011,012 (GRCm39) probably benign Het
Prkdc C T 16: 15,617,880 (GRCm39) T3237I possibly damaging Het
Pspc1 A G 14: 57,009,153 (GRCm39) probably benign Het
Rasgrp4 G A 7: 28,847,831 (GRCm39) E414K probably damaging Het
Rgs12 T A 5: 35,122,463 (GRCm39) L82Q probably damaging Het
Sh3gl3 T C 7: 81,923,087 (GRCm39) V117A probably benign Het
Shisa5 G A 9: 108,885,062 (GRCm39) A112T probably damaging Het
Tasor2 A T 13: 3,634,820 (GRCm39) H662Q probably benign Het
Tedc1 A G 12: 113,126,941 (GRCm39) E401G probably benign Het
Tsc22d1 T C 14: 76,656,341 (GRCm39) M940T probably benign Het
Vmn1r129 A T 7: 21,094,663 (GRCm39) V185E probably damaging Het
Zfp982 C A 4: 147,597,052 (GRCm39) D136E possibly damaging Het
Other mutations in Fancg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Fancg APN 4 43,003,910 (GRCm39) nonsense probably null
IGL02072:Fancg APN 4 43,007,062 (GRCm39) missense probably benign 0.00
IGL02184:Fancg APN 4 43,006,872 (GRCm39) missense possibly damaging 0.79
R0671:Fancg UTSW 4 43,002,998 (GRCm39) missense probably benign 0.00
R1581:Fancg UTSW 4 43,007,039 (GRCm39) missense probably damaging 1.00
R1853:Fancg UTSW 4 43,009,727 (GRCm39) missense probably benign 0.00
R2046:Fancg UTSW 4 43,004,604 (GRCm39) missense probably damaging 1.00
R2519:Fancg UTSW 4 43,008,787 (GRCm39) missense probably damaging 1.00
R4282:Fancg UTSW 4 43,003,830 (GRCm39) missense probably damaging 1.00
R4397:Fancg UTSW 4 43,008,897 (GRCm39) missense probably benign 0.02
R4583:Fancg UTSW 4 43,002,991 (GRCm39) missense probably benign
R4671:Fancg UTSW 4 43,005,272 (GRCm39) missense probably benign 0.01
R4887:Fancg UTSW 4 43,006,866 (GRCm39) missense probably benign 0.18
R5309:Fancg UTSW 4 43,003,019 (GRCm39) missense probably benign 0.23
R5312:Fancg UTSW 4 43,003,019 (GRCm39) missense probably benign 0.23
R5325:Fancg UTSW 4 43,006,564 (GRCm39) missense probably damaging 0.99
R5379:Fancg UTSW 4 43,002,998 (GRCm39) missense probably benign 0.00
R5386:Fancg UTSW 4 43,007,076 (GRCm39) nonsense probably null
R5649:Fancg UTSW 4 43,008,736 (GRCm39) missense probably damaging 1.00
R5788:Fancg UTSW 4 43,007,130 (GRCm39) intron probably benign
R5802:Fancg UTSW 4 43,006,582 (GRCm39) missense probably benign
R6217:Fancg UTSW 4 43,010,084 (GRCm39) missense probably benign 0.03
R6698:Fancg UTSW 4 43,007,034 (GRCm39) missense probably benign 0.00
R7092:Fancg UTSW 4 43,004,831 (GRCm39) missense probably benign 0.03
R7527:Fancg UTSW 4 43,010,116 (GRCm39) start gained probably benign
R7664:Fancg UTSW 4 43,010,066 (GRCm39) missense probably benign 0.01
R7979:Fancg UTSW 4 43,004,963 (GRCm39) missense probably damaging 1.00
R8129:Fancg UTSW 4 43,005,036 (GRCm39) splice site probably null
R8473:Fancg UTSW 4 43,004,963 (GRCm39) missense probably damaging 1.00
R8885:Fancg UTSW 4 43,007,266 (GRCm39) critical splice donor site probably null
R9166:Fancg UTSW 4 43,006,800 (GRCm39) missense probably benign 0.04
R9243:Fancg UTSW 4 43,006,565 (GRCm39) missense possibly damaging 0.69
Posted On 2016-08-02